货品编号： bioss.bs-12872R

品牌：bioss

品名： BLMBloom综合征相关蛋白抗体

规格：100ul

产品描述

产品介绍 background: Bloom’s syndrome is an autosomal recessive disorder characterized by pre- and post-natal growth deficiencies, sun sensitivity,

immunodeficiency and a predisposition to various cancers. The gene responsible for Bloom’s syndrome, BLM, encodes a protein

homologous to the RecQ helicase of E. coli and is mutated in most Bloom’s syndrome patients. One characteristic of Bloom’s

syndrome is an increased frequency of sister chromatid exchange (SCE). BLM has been shown to unwind G4 DNA, and a failure

of this function is thought to be responsible for the increased rate of SCE. BLM is known to be translocated to the nucleus, where

its ATPase activity is stimulated by both single- and double-stranded DNA. Mutations in the yeast SGS1, a homolog of BLM, are

known to cause mitotic hyperrecombination similiar to that observed in Bloom’s cells.

Function: Participates in DNA replication and repair. Exhibits a magnesium-dependent ATP-dependent DNA-helicase activity that unwinds

single- and double-stranded DNA in a 3'-5' direction.

Subunit: Part of the BRCA1-associated genome surveillance complex(BASC), which contains BRCA1, MSH2, MSH6, MLH1, ATM, BLM,

PMS2 andthe RAD50-MRE11-NBS1 protein complex. This association could be adynamic process changing throughout the cell

cycle and withinsubnuclear domains. Interacts with ubiquitinated FANCD2. Interactswith RMI complex. Interacts directly with RMI1

component of RMIcomplex. Interacts with SUPV3L1.